ClinVar for Gene (Select 5010) - ClinVar

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Links from Gene

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3833809	NM_005602.6(CLDN11):c.581C>T (p.Ala194Val)	CLDN11 (A110V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3833808	NM_005602.6(CLDN11):c.349T>C (p.Tyr117His)	CLDN11 (Y117H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3778594	NM_005602.6(CLDN11):c.319C>G (p.Arg107Gly)	CLDN11 (R107G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234232	NM_005602.6(CLDN11):c.606G>A (p.Ala202=)	CLDN11	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3065189	NM_005602.6(CLDN11):c.179C>G (p.Thr60Arg)	CLDN11 (T60R)	Single nucleotide variant (missense variant)	Leukodystrophy, hypomyelinating, 22	GUncertain significance
Select item 2683840	NM_005602.6(CLDN11):c.232G>A (p.Val78Met)	CLDN11 (V78M)	Single nucleotide variant (5 prime UTR variant +1 more)	Leukodystrophy, hypomyelinating, 22	GUncertain significance
Select item 2671595	Single allele	SOX2-OT, SPSB4 +286 more	Duplication	not provided	GPathogenic
Select item 2654274	NM_005602.6(CLDN11):c.615C>G (p.Ala205=)	CLDN11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654273	NM_005602.6(CLDN11):c.601C>T (p.His201Tyr)	CLDN11 (H117Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654272	NM_005602.6(CLDN11):c.153G>T (p.Gly51=)	CLDN11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2484094	NM_005602.6(CLDN11):c.508G>C (p.Val170Leu)	CLDN11 (V86L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472331	NM_005602.6(CLDN11):c.508G>A (p.Val170Met)	CLDN11 (V170M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422930	NC_000003.11:g.(?_168802697)_(172835521_?)dup	ACTRT3, CLDN11 +25 more	Duplication	Fanconi-Bickel syndrome	GUncertain significance
Select item 2322694	NM_005602.6(CLDN11):c.563A>G (p.Asn188Ser)	CLDN11 (N188S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	BFSP2, C3orf22 +303 more	Copy number gain	not provided	GPathogenic
Select item 1675937	NM_005602.6(CLDN11):c.336C>T (p.Pro112=)	CLDN11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ARL14, B3GALNT1 +79 more	Copy number gain	not specified	GPathogenic
Select item 1340561	GRCh37/hg19 3q26.2-26.33(chr3:168118411-179867071)x3	ACTL6A, ACTRT3 +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 1106670	NM_005602.6(CLDN11):c.622T>G (p.Ter208Glu)	CLDN11	Single nucleotide variant (stop lost)	Leukodystrophy, hypomyelinating, 22	GPathogenic
Select item 1106668	NM_005602.6(CLDN11):c.622T>C (p.Ter208Gln)	CLDN11	Single nucleotide variant (stop lost)	Leukodystrophy, hypomyelinating, 22	GPathogenic
Select item 814497	GRCh37/hg19 3q26.2-28(chr3:169617690-190593854)x3	ABCC5, ABCF3 +113 more	Copy number gain	not provided	GPathogenic
Select item 689665	NM_005602.6(CLDN11):c.93_104del (p.Val32_Gly35del)	CLDN11	Deletion (inframe_deletion)	Marfanoid habitus and intellectual disability	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	SEMA3B, SEMA3F +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	SLC7A14, SLITRK3 +198 more	Copy number gain	See cases	GPathogenic
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	ABCC5, ABCC5-AS1 +1064 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	LOC129937929, LOC129937930 +1247 more	Copy number gain	See cases	GPathogenic
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	ABCC5, ABCC5-AS1 +1245 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	ABCC5, ABCC5-AS1 +1318 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	ACTL6A, ACTRT3 +306 more	Copy number gain	See cases	GPathogenic
Select item 148012	GRCh38/hg38 3q26.2-29(chr3:168167568-198110178)x3	ABCC5, ABCC5-AS1 +1041 more	Copy number gain	See cases	GPathogenic
Select item 147458	GRCh38/hg38 3q26.1-26.2(chr3:166831737-170631211)x3	LOC129937901, LOC129937902 +101 more	Copy number gain	See cases	GUncertain significance
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937698, LOC129937699 +2647 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	LOC129937832, LOC129937833 +304 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC121048723, LOC121048724 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC129937855, LOC129937856 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937752, LOC129937753 +631 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 39